Canonical Allele Identifier: CA385034405

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701276G>T (hg19) ; chr12:g.53307492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307492G>T , CM000674.2:g.53307492G>T	GRCh38
NC_000012.11:g.53701276G>T , CM000674.1:g.53701276G>T	GRCh37
NC_000012.10:g.51987543G>T	NCBI36
NG_016775.1:g.19137C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1638C>A MANE Select	ENSP00000209873.4:p.Leu546=
ENST00000547757.2:c.*556C>A	ENSP00000448020.2:n.*556C>A
ENST00000548931.6:c.1073C>A	ENSP00000457518.1:p.Ser358Tyr
ENST00000549450.6:n.1572C>A
ENST00000209873.8:c.1638C>A	ENSP00000209873.4:p.Leu546=
ENST00000394384.7:c.1539C>A	ENSP00000377908.3:p.Leu513=
ENST00000548931.5:c.1073C>A	ENSP00000457518.1:p.Ser358Tyr
ENST00000550286.5:c.1266C>A	ENSP00000446885.1:p.Leu422=
ENST00000552876.5:n.1981C>A
NM_001173466.1:c.1539C>A	NP_001166937.1:p.Leu513=
NM_015665.5:c.1638C>A	NP_056480.1:p.Leu546=
XM_006719617.2:c.1653C>A	XP_006719680.1:p.Leu551=
XM_011538777.1:c.1695C>A	XP_011537079.1:p.Leu565=
XM_011538778.1:c.1680C>A	XP_011537080.1:p.Leu560=
XM_011538779.1:c.1596C>A	XP_011537081.1:p.Leu532=
XM_011538780.1:c.1581C>A	XP_011537082.1:p.Leu527=
XM_011538781.1:c.1029C>A	XP_011537083.1:p.Leu343=
XM_011538778.2:c.1680C>A	XP_011537080.1:p.Leu560=
XM_011538780.2:c.1581C>A	XP_011537082.1:p.Leu527=
XR_001748875.2:n.1695C>A
NM_015665.6:c.1638C>A MANE Select	NP_056480.1:p.Leu546=
NM_001173466.2:c.1539C>A	NP_001166937.1:p.Leu513=